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The New England Journal of Medicine, ISSN 0028-4793, 01/2019, Volume 380, Issue 2, pp. 142 - 151
Journal Article
by Lopez-Rivera, Esther and Liu, Qingxue and Liu, Yangfan P and Verbitsky, Miguel and Anderson, Blair R and Capone, Valentina P and Otto, Edgar A and Yan, Zhonghai and Mitrotti, Adele and Martino, Jeremiah and Steers, Nicholas J and Fasel, David A and Vukojevic, Katarina and Deng, Rong and Racedo, Silvia E and Werth, Max and Westland, Rik and Vivante, Asaf and Makar, Gabriel S and Bodria, Monica and Sampson, Matthew G and Gillies, Christopher E and Vega-Warner, Virginia and Maiorana, Mariarosa and Petrey, Donald S and Honig, Barry and Lozanovski, Vladimir J and Salomon, Rémi and Heidet, Laurence and Carpentier, Wassila and Gaillard, Dominique and Carrea, Alba and Gesualdo, Loreto and Cusi, Daniele and Izzi, Claudia and Scolari, Francesco and van Wijk, Joanna A.E and Arapovic, Adela and Saraga-Babic, Mirna and Saraga, Marijan and Kunac, Nenad and Samii, Ali and McDonald-McGinn, Donna M and Crowley, Terrence B and Zackai, Elaine H and Drozdz, Dorota and Miklaszewska, Monika and Tkaczyk, Marcin and Sikora, Przemyslaw and Szczepanska, Maria and Mizerska-Wasiak, Malgorzata and Krzemien, Grazyna and Szmigielska, Agnieszka and Zaniew, Marcin and Darlow, John M and Puri, Prem and Barton, David and Casolari, Emilio and Furth, Susan L and Warady, Bradley A and Gucev, Zoran and Hakonarson, Hakon and Flogelova, Hana and Tasic, Velibor and Latos-Bielenska, Anna and Materna-Kiryluk, Anna and Allegri, Landino and Wong, Craig S and Drummond, Iain A and D’Agati, Vivette and Imamoto, Akira and Barasch, Jonathan M and Hildebrandt, Friedhelm and Kiryluk, Krzysztof and Lifton, Richard P and Morrow, Bernice E and Jeanpierre, Cecile and Papaioannou, Virginia E and Ghiggeri, Gian Marco and Gharavi, Ali G and Katsanis, Nicholas and Sanna-Cherchi, Simone
The New England Journal of Medicine, ISSN 0028-4793, 02/2017, Volume 376, Issue 8, pp. 742 - 754
Journal Article
Annals of Internal Medicine, ISSN 0003-4819, 01/2019, Volume 170, Issue 1, pp. 11 - 21
Background: Exome sequencing is increasingly being used for clinical diagnostics, with an impetus to expand reporting of incidental findings across a wide... 
INCIDENTAL FINDINGS | GENETIC-VARIATION | MEDICINE, GENERAL & INTERNAL | WHOLE-GENOME | PROTEIN | DISEASE | AMERICAN-COLLEGE | SECONDARY FINDINGS | HIGH PREVALENCE | CLINICAL EXOME | GENOMIC MEDICINE
Journal Article
Journal Article
by Verbitsky, Miguel and Westland, Rik and Perez, Alejandra and Kiryluk, Krzysztof and Liu, Qingxue and Krithivasan, Priya and Mitrotti, Adele and Fasel, David A and Batourina, Ekaterina and Sampson, Matthew G and Bodria, Monica and Werth, Max and Kao, Charlly and Martino, Jeremiah and Capone, Valentina P and Vivante, Asaf and Shril, Shirlee and Kil, Byum Hee and Marasà, Maddalena and Zhang, Jun Y and Na, Young-Ji and Lim, Tze Y and Ahram, Dina and Weng, Patricia L and Heinzen, Erin L and Carrea, Alba and Piaggio, Giorgio and Gesualdo, Loreto and Manca, Valeria and Masnata, Giuseppe and Gigante, Maddalena and Cusi, Daniele and Izzi, Claudia and Scolari, Francesco and van Wijk, Joanna A. E and Saraga, Marijan and Santoro, Domenico and Conti, Giovanni and Zamboli, Pasquale and White, Hope and Drozdz, Dorota and Zachwieja, Katarzyna and Miklaszewska, Monika and Tkaczyk, Marcin and Tomczyk, Daria and Krakowska, Anna and Sikora, Przemyslaw and Jarmoliński, Tomasz and Borszewska-Kornacka, Maria K and Pawluch, Robert and Szczepanska, Maria and Adamczyk, Piotr and Mizerska-Wasiak, Malgorzata and Krzemien, Grazyna and Szmigielska, Agnieszka and Zaniew, Marcin and Dobson, Mark G and Darlow, John M and Puri, Prem and Barton, David E and Furth, Susan L and Warady, Bradley A and Gucev, Zoran and Lozanovski, Vladimir J and Tasic, Velibor and Pisani, Isabella and Allegri, Landino and Rodas, Lida M and Campistol, Josep M and Jeanpierre, Cécile and Alam, Shumyle and Casale, Pasquale and Wong, Craig S and Lin, Fangming and Miranda, Débora M and Oliveira, Eduardo A and Simões-e-Silva, Ana Cristina and Barasch, Jonathan M and Levy, Brynn and Wu, Nan and Hildebrandt, Friedhelm and Ghiggeri, Gian Marco and Latos-Bielenska, Anna and Materna-Kiryluk, Anna and Zhang, Feng and Hakonarson, Hakon and Papaioannou, Virginia E and Mendelsohn, Cathy L and Gharavi, Ali G and Sanna-Cherchi, Simone
Nature Genetics, ISSN 1061-4036, 01/2019, Volume 51, Issue 1, pp. 117 - 127
Journal Article
Historische Anthropologie, ISSN 0942-8704, 08/2016, Volume 24, Issue 2, pp. 300 - 302
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 11/2017, Volume 101, Issue 5, pp. 789 - 802
Renal agenesis and hypodysplasia (RHD) are major causes of pediatric chronic kidney disease and are highly genetically heterogeneous. We conducted whole-exome... 
CAKUT | SETBP1 | EYA1 | SIX5 | WNT5A | HSPA4L | HNF1B | GATA3 | PAX2 | GENETIC-VARIATION | ANOMALIES | ABNORMALITIES | URINARY-TRACT | CANDIDATE GENES | DISEASE | GENETICS & HEREDITY | RISK | RENAL HYPODYSPLASIA | EPIDEMIOLOGY | CHILDREN
Journal Article
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